June 12, 2017- Connective Tissue Gene Tests (CTGT) is pleased to announce 16 New or updated NGS panels and tests
Amyotrophic lateral sclerosis and related disorders NGS panel | ALS2, ANG, ARHGEF28, CHCHD10, CHMP2B, ERBB4, FIG4, FUS, HNRNPA1, HNRNPA2B1, MATR3, OPTN, PFN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP | |
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel | COL12A1, COL6A3, COL6A2, COL6A1 | |
Brittle cornea syndrome NGS panel | PRDM5, ZNF469 | |
Distal hereditary motor neuropathy and related disorders NGS panel | BICD2, BSCL2, DCAF8, DCTN1, DNAJB2, DYNC1H1, FBXO38, GAN, GARS, GJB1, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, PDK3, PLEKHG5, REEP1, SETX, SIGMAR1, SLC5A7, ATP7A, TRPV4 | |
Distal Myopathy NGS panel | ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN, VCP | |
Ehlers-Danlos syndrome NGS panel - Dominant | C1R, C1S, COL12A1, FLNA, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1 | |
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive | ADAMTS2, AEBP1, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, DSE, FKBP14, FLNA, ATP7A, COL5A2, COL5A1, COL3A1, COL1A2, COL1A1, PLOD1, PRDM5, SLC39A13, ZNF469 | |
Ehlers-Danlos syndrome NGS panel - Recessive | ADAMTS2, AEBP1, B3GALT6, B4GALT7, CHST14, DSE, FKBP14, ATP7A, COL1A2, PLOD1, PRDM5, SLC39A13, ZNF469 | |
Ehlers-Danlos syndrome, periodontal type NGS panel | C1R, C1S | |
Epidermolysis bullosa NGS panel | CAST, CDSN, CHST8, COL17A1, CSTA, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, SERPINB8, TGM5, COL7A1 | |
Ichthyosis NGS panel | ABCA12, ALOX12B, ALOXE3, CASP14, CAST, CDSN, CERS3, CHST8, CSTA, CYP4F22, FLG, FLG2, GJA1, GJB3, GJB4, KDSR, KRT1, KRT10, KRT2, KRT83, LIPN, LOR, MBTPS2, NIPAL4, PNPLA1, POMP, SERPINB8, ST14, STS, SULT2B1, TGM1, TGM5 | |
Mucopolysaccharidosis NGS panel | ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MCOLN1, NAGLU, SGSH | |
Myofibrillar myopathy and related disorders NGS panel | ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT, PYROXD1 | |
Smith-Lemli-Opitz syndrome | DHCR7 | |
Snyder-Robinson mental retardation syndrome | SMS | |
Waardenburg syndrome NGS panel | EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR |